title: Exon-intron structure, analysis of promoter region, and chromosomal localization of the human type 1 sigma receptor gene.
abstract: Sigma receptor is a protein that interacts with a variety of psychotomimetic drugs including cocaine and amphetamines and is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. Here we report on the structure and organization of the human gene coding for this receptor. The gene is approximately 7 kbp long and contains four exons, interrupted by three introns. Exon 3 is the shortest (93 bp), and exon 4 is the longest (1,132 bp). Among the introns, intron 3 is the longest (approximately 1,250 bp). Exon 2 codes for the single transmembrane domain present in the receptor. 5' rapid amplification of cDNA end reactions with mRNA from the JAR human trophoblast cell line have identified 56 bp upstream of the translation start codon as the initiation site for transcription. This transcription start site has been confirmed by RNase protection analysis. Structural analysis of the 5' flanking region has revealed that the gene is TATA-less. This region, however, contains a CCAATC box in the reverse complement and several GC boxes that are recognition sites for SP1. There are also consensus sequences for the liver-specific transcription factor nuclear factor-1/L, for a variety of cytokine responsive factors, and for the xenobiotic responsive factor called the arylhydrocarbon receptor. Southern blot analysis of the genomic DNA from Chinese hamster-human and mouse-human hybrid cell lines and fluorescent in situ hybridization with human metaphase chromosome spreads have shown that the gene is located on human chromosome 9, band p13, a region known to be associated with different psychiatric disorders.
authors.affiliation: Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100, USA.
authors.forename: P D
authors.initials: PD
authors.lastname: Prasad
authors.forename: H W
authors.initials: HW
authors.lastname: Li
authors.forename: Y J
authors.initials: YJ
authors.lastname: Fei
authors.forename: M E
authors.initials: ME
authors.lastname: Ganapathy
authors.forename: T
authors.initials: T
authors.lastname: Fujita
authors.forename: L H
authors.initials: LH
authors.lastname: Plumley
authors.forename: T L
authors.initials: TL
authors.lastname: Yang-Feng
authors.forename: F H
authors.initials: FH
authors.lastname: Leibach
authors.forename: V
authors.initials: V
authors.lastname: Ganapathy
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003001:Cloning, Molecular; D005091:Exons; D015698:Genomic Library; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D017480:Receptors, sigma / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D011994:Recombinant Proteins / Q000096:biosynthesis / Q000737:chemistry; D000097605:Sigma-1 Receptor
chemical_list: D017480:Receptors, sigma; D011994:Recombinant Proteins; D000097605:Sigma-1 Receptor